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Table 4 Haplotype frequencies of maternal MTHFR genetic polymorphisms across different comparison groups

From: Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring

Haplotypes

Controls (%)

Cases (%)

OR (95% CI)†

P

Total CHD group versus the control group

    

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 A–C

1007.3 (77.2)

853.5 (75.0)

1

 

 G–C

138.7 (10.6)

153.5 (13.5)

1.31 (1.02–1.67)

0.034

 A–T

155.7 (11.9)

129.5 (11.4)

0.98 (0.76–1.26)

0.884

rs1801133-rs4846052

    

 G–C

816.3 (62.6)

609.3 (53.5)

1

 

 A–C

396.7 (30.4)

361.7 (31.8)

1.22 (1.02–1.46)

0.027

 G–T

88.7 (6.8)

160.7 (14.1)

2.43 (1.84–3.21)

< 0.001

rs2066470-rs3737964-rs535107

    

 G–C–A

979.8 (75.1)

832.5 (73.2)

1

 

 G–T–G

112.2 (8.6)

152.6 (13.4)

1.60 (1.23–2.08)

< 0.001

 A–C–G

117.0 (9.0)

138.6 (12.2)

1.39 (1.07–1.81)

0.013

 G–C–G

47.5 (3.6)

11.6 (1.0)

0.29 (0.15–0.55)

< 0.001

The ASD group versus the control group

    

rs4846048-rs2274976

    

 A–C

1007.4 (77.3)

146.4 (77.1)

1

 

 A–T

155.6 (11.9)

20.6 (10.8)

0.91 (0.56–1.49)

0.710

 G–C

138.6 (10.6)

22.6 (11.9)

1.12 (0.70–1.81)

0.636

rs1801131-rs1801133-rs4846052

    

 T–G–C

687.7 (52.7)

73.1 (38.5)

1

 

 T–A–C

388.1 (29.8)

59.7 (31.4)

1.45 (1.01–2.08)

0.046

 G–G–C

137.2 (10.5)

26.2 (13.8)

1.80 (1.11–2.91)

0.017

 G–G–T

74.5 (5.7)

22.1 (11.6)

2.79 (1.64–4.75)

< 0.001

rs2066470-rs3737964

    

 G–C

1025.9 (78.7)

142.0 (74.7)

1

 

 A–C

138.1 (10.6)

24.0 (12.7)

1.26 (0.79–2.00)

0.340

 G–T

134.1 (10.3)

23.0 (12.1)

1.24 (0.77–1.99)

0.377

The VSD group versus the control group

    

rs4846048-rs2274976

    

 A–C

1007.4 (77.3)

535.5 (75.0)

1

 

 A–T

155.6 (11.9)

81.5 (13.5)

0.99 (0.74–1.31)

0.920

 G–C

138.6 (10.6)

87.5 (11.4)

1.19 (0.89–1.58)

0.241

rs1801133-rs4846052

    

 G–C

814.0 (62.4)

378.0 (53.5)

1

 

 A–C

399.0 (30.6)

232.0 (31.8)

1.25 (1.02–1.53)

0.030

 G–T

91.0 (7.0)

96.0 (14.1)

2.27 (1.66–3.10)

< 0.001

rs2066470-rs3737964

    

 G–C

1025.8 (78.7)

530.4 (73.2)

1

 

 A–C

138.2 (10.6)

87.6 (12.2)

1.23 (0.92–1.63)

0.165

 G–T

134.2 (10.3)

84.6 (1.0)

1.22 (0.91–1.63)

0.183

The PDA group versus the control group

    

rs4846048-rs2274976

    

 A–C

1007.3 (77.2)

246.4 (72.5)

1

 

 G–C

138.7 (10.6)

62.6 (18.4)

1.85 (1.33–2.57)

< 0.001

 A–T

155.7 (11.9)

30.6 (9.0)

0.80 (0.53–1.21)

0.298

rs1801133-rs4846052

    

 G–C

814.0 (62.4)

186.0 (54.7)

1

 

 A–C

399.0 (30.6)

103.0 (30.3)

1.13 (0.86–1.48)

0.374

 G–T

91.0 (7.0)

51.0 (15.0)

2.45 (1.68–3.58)

< 0.001

rs2066470-rs3737964

    

 G–C

1025.6 (78.7)

245.0 (72.1)

1

 

 G–T

134.4 (10.3)

62.0 (18.2)

1.93 (1.39–2.69)

< 0.001

 A–C

138.4 (10.6)

32.0 (9.4)

0.97 (0.64–1.46)

0.876

  1. MTHFR Methylenetetraphydrofolate reductase, CHD congenital heart disease, ASD atrial septal defect, VSD ventricular septal defect, PDA patent ductus arteriosus, OR odds ratio, CI confidence interval
  2. †The OR values and 95% CIs were calculated using binary logistic regression